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FLASH GENE
Symbol ATP11C contributors: mct - updated : 17-12-2011
HGNC name ATPase, Class VI, type 11C
HGNC id 13554
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
haloacid dehalogenase-like hydrolase domain
HOMOLOGY
interspecies homolog to Drosophila CG17034
homolog to C.elegans Y49E10.11
Homologene
FAMILY
  • the cation transport ATpases (P-type) family
  • type IV subfamily
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • magnesium-dependent enzyme catalyzing the hydrolysis of ATP coupled with the transport of calcium
  • critical for the internalization of phosphatidylserine and differentiation of B lymphocytes
  • essential, cell-autonomous and context-sensitive function for ATP11C, a putative aminophospholipid flippase, in B cell development
  • multifunctional transporter, essential for adult B-cell development, the prevention of intrahepatic cholestasis, and parturition
  • key nonhematopoietic role for ATP11C, specifically in the prevention of intrahepatic cholestasis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    ATP
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene candidate for genetically undiagnosed cases of cholestasis and dystocia in humans
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mutation of the X-linked mouse gene Atp11c, which encodes a paralogous P4-type ATPase, precludes B-cell development in the adult bone marrow, but also causes hyperbilirubinemia